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Journal article

DOK7 congenital myasthenic syndrome.

Abstract:

Despite being a fairly recent discovery, DOK7 congenital myasthenic syndrome (CMS) is the third most common form of CMS in the United Kingdom. DOK7 is a postsynaptic protein associated with the AChR clustering pathway. In contrast to AChR deficiency due to epsilon subunit mutations, onset of DOK7 CMS tends to be later--ages two to three years--and in DOK7 CMS eye movements are usually spared and anticholinesterases can exacerbate the weakness. The typical phenotype of DOK7 CMS is of a limb gi...

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Publication status:
Published

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Journal:
Annals of the New York Academy of Sciences
Volume:
1275
Issue:
1
Pages:
49-53
Publication date:
2012-12-05
DOI:
EISSN:
1749-6632
ISSN:
0077-8923
URN:
uuid:83978b82-0b93-4930-bcac-9d58dfde21c3
Source identifiers:
369935
Local pid:
pubs:369935

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